Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Liddle syndrome | Is a | False | Hypokalemic nephropathy | Inferred relationship | Some | |
Familial hypokalemic and hypomagnesemic tubulopathy | Is a | False | Hypokalemic nephropathy | Inferred relationship | Some | |
Bartter syndrome (disorder) | Is a | False | Hypokalemic nephropathy | Inferred relationship | Some | |
A rare syndrome characterised by hypokalaemic metabolic alkalosis in combination with significant hypomagnesaemia and low urinary calcium excretion. The disease presents mainly in adolescents and adults but also encountered in children, as early as in the neonatal period. Caused by biallelic inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter NCC expressed in the apical membrane of cells lining the distal convoluted tubule. More than 350 different NCC mutations throughout the whole protein have been identified. | Is a | True | Hypokalemic nephropathy | Inferred relationship | Some |
This concept is not in any reference sets